Classic Presentations Flashcards by Krystel Reyes-Ortiz

Gout
Intelectual disability
Self-mutilating behavior in a boy

Lesch-Nyhan Syndrome

HGPRT deficiency
X-linked recessive

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Situs inversus
Chronic ear infections
Sinusitus
Bronchiectasias 
Infertility

Kartagener Syndrome aka Primary ciliary dyskinesia

Dynein arm defect affecting cilia

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Blue sclera
Multiple fractures
Dental problems
Conductive hearing loss

Osteogenesis Imperfecta

Type I collagen defect

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Elastic skin
Hypermobility of joints
Increase bleeding tendency

Ehlers-Danlos Syndrome

Type V collagen defect
Type III collagen defect seen in vascular subtype

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Arachnodactily
Lens dislocation - upward & temporal
Aortic dissection
Hyperflexible joints

Marfan Syndrome

Fibrillin defect

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Arachnodactily
Pectus deformity
Lens dislocation - downward

Homocystinuria

Autosomal recessive

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Café-au-lait spots (unilateral)
Polyostic fibrous dysplasia
Precocious puberty
Multiple endocrine abnormalities

McCune Albright Syndrome

Gs protein activating mutation

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Meconium ileum in neonate
Recurrent pulmonary infections
Nasal polyps
Pancreatic insufficiency 
Infertility/subfertility

Cystic Fibrosis

CFTR gene defect
Chromosome 7
∆F508

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Calf Pseudohypertrophy

Muscular Dystrophy

Most common? Duchenne
-> X-linked recessive frameshift mutation of dystrophin

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Child uses arms to stand up from squat

Duchenne Muscular Dystrophy = Gowers sign

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Slow, progressive muscle weakness in boys

Becker Muscular Dystrophy

- X-linked non-frameshift deletions in dystrophin
Less severe that Duchenne

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Infant with cleft lip/palate
Microcephaly or holoprosencephaly
Polydactily
Cutis Aplasia

Patau Syndrome

Trisomy 13

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Infant with microcephaly
Rocker-bottom feet
Clenched hands
Structural heart defects

Edwards Syndrome

Trisomy 18

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Single palmar crease

Intellectual disability

Down Syndrome

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Microcephaly
High pitched cry
Intelectual disability

Cri-du-chat Syndrome

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Confusion
Ophthalmoplegia/nystagmus
Ataxia

Wernicke encephalopathy

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Dilated cardiomyopathy - High output HF
Edema
Alcoholism or malnutrition

Wet Beriberi

Vit B1 deficiency

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Burning feet syndrome

Vitamin B5 deficiency

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Dermatitis
Diarrhea
Dementia

Pellagra

Vitamin B3 (niacin) deficiency

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Swollen gums
Mucosal bleeding
Poor wound healing
Petechiae
Corkscrew Hairs

Scurvy

Vitamin C deficiency

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Bowlegs (children)
Bone pain
Muscle weakness

Rickets in children
Osteomalacia in adults

Vitamin D deficiency

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Hemorrhagic disease of the newborn with increase PT & PTT

Vitamin K deficiency

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Intellectual disability
Musty body odor
Hypopigmented skin
Eczema

Phenylketonuria

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Bluish-black connective tissue, ear cartilage, and sclerae

Urine turns black on prolong exposure to air

Alkaptonuria

Homogentisate oxidase deficiency
Ochronosis

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Myopathy (infantile hypertrophic cardiomyopathy) | Exercise intolerance

Pompe Disease - Lysosoma alfa-1,4-glucosidase deficiency

Infant with hypoglycemia & hepatomegaly

Cori Disease - debranching enzyme deciciency or Von Gierke Disease - glucose-6-phosphatase deficiency

Chronic exercise intolerance with myalgia Fatigue Painful cramps Myoglobinuria

McArdle Disease - Skeletal muscle glycogen phosphorylase deficiency

Cherry red spots on macula | No Hepatosplenomegaly

Tay-Sachs disease - Ganglioside accumulation or Central retinal artery occlusion

Cherry red spots on macula | Hepatosplenomegaly

Nieman-Pick Disease - Sphingomyelin accumulation

``` Hepatosplenomegaly Pancytopenia Osteoporosis Avascular necrosis of the femoral head Bone Crisis ```

Gaucher Disease - Glucocerebrosidase deficiency - Beta-Glucosidase accumulation

Achilles tendon xanthoma

Familial Hypercholesterolemia - Decrease LDL receptor signaling

Recurrent Neisseria infection

Terminal complement deficiency

Male child with recurrent infections, and no mature B cells

Bruton disease X-linked agammablobulinemia

Anaphylaxis following blood transfusion

IgA deficiency

Recurrent cold (non-inflamed) abcesses Eczema High serum IgE Increase eosinophils

Hyper-IgE Syndrome or Job Syndrome - Neutrophil chemotaxis abnormality

Late umbilical cord separation (>30 days) No pus Recurrent skin and mucosal bacterial infections

Leukocyte Adhesion Deficiency type 1 - Defective LFA-1 integrin

Recurrent infections | Granulomas with catalase (+) organisms

Chronic granulomatous disease - Defect in NADPH oxidase

Fever Vomiting Diarrhea Desquamating rash following use on nasal pack or tampon

Staphylococcal Toxic Shock Syndrome

Strawberry tongue

Scarlet fever (sandpaper rash) or Kawasaki disease (lymphadenopathy and high fever for 5 days)

Flaccid paralysis in newborn after ingestion of honey

Clostridium botulinum infection - Floppy baby syndrome

Abdominal pain Diarrhea Leukocytosis Recent antibiotic use

Clostridium difficile infection

Tonsillar pseudomembrane with "bull's neck" appearance

Corynebacterium diphtheria infection

Back pain, fever, and night sweats

Pott Disease - Vertebral Tb

Adrenal insufficiency Fever DIC

Waterhouse-Friederichsen Syndrome - Meningococcemia

Red currant jelly sputum in patients with alcohol overuse or diabetes

Klebsiella pneumoniae pneumonia

Large rash with bull's eye appearance

Erythema migrans from Ixodes tick bite - Lyme disease: Borrelia

Ulcerated genital lesion non-painful indurated

Chancre - 1˚ Syphiliys due to Treponema pallidum

Ulcerated genital lesion painful with exudate

Chancroid - Haemophilus ducreyi

Smooth, moist, painless, wartlike white lesions on genitals

Condyloma lata - 2˚ Syphilis

Pupil accommodates but doesn't react to light

Argyll Robertson Pupil due to Neurosyphilis

Fever Chills Headache Myalgia following abx tx for syphilis

Jarisch-Herxheimer reaction

Dog or cat bite resulting in infection (cellulitis, OM)

Pasteurella multocida

Atypical "walking pneumonia" with x-ray looking worse that the patient

Mycoplasma pneumoniae

Rash on palms and soles

Coxsackie A 2˚ Syphilis Rocky Mountain Spotted Fever

Black eschar on face of patient with diabetic ketoacidosis

Mucor or Rhizopus fungal infection

Chorioretinitis Hydrocephalus Intracranial calcifications

Congenital Toxoplasmosis

Pruritus | Serpinginous rash after walking barefoot

Hookworm: Ancylostoma spp. Necator americanus

Child with fever later develops red rash on face that spreads to body

Erythema infectious/Fifth disease caused by Parvovirus B19

``` Fever Cough Conjunctivitis Coryza Diffuse rash ```

Measles

Small irregular red spots on buccal/lingual mucosa with blue-white centers

Koplik Spots

Bounding pulses Wide pulse pressure Diastolic heart murmur Head bobbing

Aortic regurgitation

Systolic ejection murmur (crescendo - decrescendo) Narrow pulse pressure Pulsus parvus et tardus

Aortic stenosis

Continuous "machine like" murmur

PDA Close with: Indomethacin Keep open with: PGE

Chest pain on exertion

Angina

Chest pain with ST depression on ECG

``` Angina with (-) troponins NSTEMI with (+) tropinins ```

Chest pain Pericardial effusion/friction rub Persistent fever following MI

Dressler Syndrome - autoinmune mediated post MI fibrinous pericarditis, 2 weeks to several months after acute episode.

Distant heart sounds Distended neck veins Hypotension

Becks triad of cardiac tamponade

Painful, raised red lesions on pads of fingers/toes

Osler nodes in infective endocarditis due to inmune complex deposition

Painless erythematous lesions on palms and soles

Janeway lesions due to infective endocarditis, septic emboli/microabscesses

Splinter hemorrhages in fingernails

Infective endocarditis

Retinal hemorrhages with pale centers

Roth spots due to infective endocarditis

``` Telangiectasias Recurrent epistaxis Skin discoloration AV malformation GI bleeding Hematuria ```

Hereditary hemorrahagic telangiectasia - Osler Weber Rendu Syndrome

Congenital defect caused by: | Prenatal alcohol exoposure

VSD PDA ASD Tetralogy of Fallot

Congenital defect caused by: | Congenital Rubella

PDA Pulmonary artery stenosis Septal defects

Congenital defect caused by: | Down Syndrome

ASD | VSD

Congenital defect caused by: | DM during pregnancy

Transposition of great vessels Truncus arteriosus Tricuspid atresia VSD

Congenital defect caused by: | Marfan Syndrome

MVP Thoracic aortic aneurysm & dissection Aortic regurgitation

Congenital defect caused by: | Lithium exposure

Ebstein anomaly

Congenital defect caused by: | Turner syndrome

Bicuspid aortic valve | Coarctation of the aorta

Congenital defect caused by: | Williams Syndrome

Supravalvular aortic stenosis

Congenital defect caused by: | 22q11 Syndromes

Tetralogy of Fallot | Truncus arteriosus

Classic Presentations Flashcards

(81 cards)